The STAT5b pathway defect and autoimmunity

Frontiers in Immunology

Volumn 3, Issue AUG, 2012, Pages

  Kanai, Takahiro ^a   Jenks, Jennifer ^a   Nadeau, Kari Christine ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Allergy; Autoimmunity; Bcl 2; CD25; Foxp3; IL 2; Immunodeficiency; STAT5b

Indexed keywords

EID: 84874199166     PISSN: None     EISSN: 16643224     Source Type: Journal    
DOI: 10.3389/fimmu.2012.00234     Document Type: Article

References (48)

1. Bennett, C. L., Christie, J., Ramsdell, F., Brunkow, M. E., Ferguson, P. J., Whitesell, L., Kelly, T. E., Saulsbury, F. T., Chance, P. F., and Ochs, H. D. (2001). The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat. Genet. 27, 20-21.
2. Bernasconi, A., Marino, R., Ribas, A., Rossi, J., Ciaccio, M., Oleastro, M., Ornani, A., Paz, R., Rivarola, M. A., Zelazko, M., and Belgorosky, A. (2006). Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. Pediatrics 118, e1584-e1592.
3. Boney, C. M., Gruppuso, P. A., Faris, R. A., and Frackelton, A. R. Jr. (2000). The critical role of Shc in insulinlike growth factor-I-mediated mitogenesis and differentiation in 3T3-L1 preadipocytes. Mol. Endocrinol. 14, 805-813.
4. Boucheron, C., Dumon, S., Santos, S. C., Moriggl, R., Hennighausen, L., Gisselbrecht, S., and Gouilleux, F. (1998). A single amino acid in the DNA binding regions of STAT5A and STAT5B confers distinct DNA binding specificities. J. Biol. Chem. 273, 33936-33941.
5. Buggins, A. G., and Pepper, C. J. (2010). The role of Bcl-2 family proteins in chronic lymphocytic leukaemia. Leuk. Res. 34, 837-842.
6. Campbell, D. J., and Koch, M. A. (2011). Phenotypical and functional specialization of FOXP3+ regulatory T cells. Nat. Rev. Immunol. 11, 119-130.
7. Chan, S. S., Schedlich, L. J., Twigg, S. M., and Baxter, R. C. (2009). Inhibition of adipocyte differentiation by insulinlike growth factorbinding protein-3. Am. J. Physiol. Endocrinol. Metab. 296, E654-E663.
8. Chatila, T. A., Blaeser, F., Ho, N., Lederman, H. M., Voulgaropoulos, C., Helms, C., and Bowcock, A. M. (2000). JM2, encoding a fork headrelated protein, is mutated in X-linked autoimmunityallergic dysregulation syndrome. J. Clin. Invest. 106, R75-R81.
9. Chen, X., Vinkemeier, U., Zhao, Y., Jeruzalmi, D., Darnell, J. E. Jr., and Kuriyan, J. (1998). Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA. Cell 93, 827-839.
10. Chia, D. J., Subbian, E., Buck, T. M., Hwa, V., Rosenfeld, R. G., Skach, W. R., Shinde, U., and Rotwein, P. (2006). Aberrant folding of a mutant Stat5b causes growth hormone insensitivity and proteasomal dysfunction. J. Biol. Chem. 281, 6552-6558.
11. Cohen, A. C., Nadeau, K. C., Tu, W., Hwa, V., Dionis, K., Bezrodnik, L., Teper, A., Gaillard, M., Heinrich, J., Krensky, A. M., Rosenfeldand, R. G., and Lewis, D. B. (2006). Cutting edge: decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency. J. Immunol. 177, 2770-2774.
12. Crispi, S., Sanzari, E., Monfregola, J., De Felice, N., Fimiani, G., Ambrosio, R., D'Urso, M., and Ursini, M. V. (2004). Characterization of the human STAT5A and STAT5B promoters: evidence of a positive and negative mechanism of transcriptional regulation. FEBS Lett. 562, 27-34.
13. Fang, P., Kofoed, E. M., Little, B. M., Wang, X., Ross, R. J., Frank, S. J., Hwa,V.,and Rosenfeld,R. G. (2006). A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulinlike growth factor-I deficiency, cannot function as a signal transducer or transcription factor. J. Clin. Endocrinol. Metab. 91, 1526-1534.
14. Fontenot, J. D., Gavin, M. A., and Rudensky, A. Y. (2003). Foxp3 programs the development and function of CD4+ CD25+ regulatory T cells. Nat. Immunol. 4, 330-336.
15. Grimley, P. M., Dong, F., and Rui, H. (1999). Stat5a and Stat5b: fraternal twins of signal transduction and transcriptional activation. Cytokine Growth Factor Rev. 10, 131-157.
16. Hori, S., Nomura, T., and Sakaguchi, S. (2003). Control of regulatory T cell development by the transcription factor Foxp3. Science 299, 1057-1061.
17. Hwa, V., Camacho-Hübner, C., Little, B. M., David, A., Metherell, L. A., El-Khatib, N., Savageb, M. O., and Rosenfeld,R.G. (2007).Growthhormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene. Horm. Res. 68, 218-224.
18. Hwa,V., Little, B.,Adiyaman, P., Kofoed, E. M., Pratt, K. L., Ocal, G., Berberoglu, M., and Rosenfeld, R. G. (2005). Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. J. Clin. Endocrinol. Metab. 90, 4260-4266.
19. Hwa, V., Little, B., Kofoed, E. M., and Rosenfeld, R. G. (2004). Transcriptional regulation of insulinlike growth factor-I by interferongamma requires STAT-5b. J. Biol. Chem. 279, 2728-2736.
20. Hwa, V., Nadeau, K., Wit, J. M., and Rosenfeld, R. G. (2011). STAT5b deficiency: lessons from STAT5b gene mutations. Best Pract. Res. Clin. Endocrinol. Metab. 25, 61-75.
21. John, S., Vinkemeier, U., Soldaini, E., Darnell, J. E. Jr., and Leonard, W. J. (1999). The significance of tetramerization in promoter recruitment by Stat5. Mol. Cell. Biol. 19, 1910-1918.
22. Kawai, M., and Rosen, C. J. (2010). The IGF-I regulatory system and its impact on skeletal and energy homeostasis. J. Cell. Biochem. 111, 14-19.
23. Khattri, R., Cox, T., Yasayko, S. A., and Ramsdell, F. (2003). An essential role for Scurfin in CD4+ CD25+ T regulatory cells. Nat. Immunol. 4, 337-342.
24. Kofoed,E. M.,Hwa,V.,Little,B.,Woods, K. A., Buckway, C. K., Tsubaki, J., Pratt, K. L., Bezrodnik, L., Jaspe, H., Teppe, A., Heinrich, J. J., and Rosenfeld,R.G. (2003).Growthhormone insensitivity associated with a STAT5b mutation. N. Engl. J. Med. 349, 1139-1147.
25. Langlois, J. A., Rosen, C. J., Visser, M., Hannan, M. T., Harris, T., Wilson, P. W. F., and Kiel, D. P. (1998).Association between insulinlike growth factor I and bone mineral density in older women and men: the Framingham Heart Study. J. Clin. Endocrinol. Metab. 83, 4257-4262.
26. Levy, D. E., and Darnell, J. E. Jr. (2002). Stats: transcriptional control and biological impact. Nat. Rev. Mol. Cell. Biol. 3, 651-662.
27. Lin, J. X., and Leonard,W. J. (2000). The role of Stat5a and Stat5b in signaling by IL-2 family cytokines. Oncogene 19, 2566-2576.
28. Liu, X., Robinson, G. W., Wagner, K. U., Garrett, L., Wynshaw-Boris, A., and Hennighausen, L. (1997). Stat5a is mandatory for adult mammary gland development and lactogenesis. Genes Dev. 11, 179-186.
29. Llambi, F., and Green, D. R. (2011). Apoptosis and oncogenesis: give and take in the BCL-2 family. Curr. Opin. Genet. Dev. 21, 12-20.
30. Mandal, M., Powers, S. E., Maienschein-Cline, M., Bartom, E. T., Hamel, K. M., Kee, B. L., Dinner, A. R., and Clark, M. R. (2011). Epigenetic repression of the Igk locus by STAT5-mediated recruitment of the histone methyltransferase Ezh2. Nat. Immunol. 12, 1212-1220.
31. Nadeau, K., Hwa, V., and Rosenfeld, R. G. (2011). STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease. J. Pediatr. 158, 701-708.
32. Pugliese-Pires, P. N., Tonelli, C. A., Dora, J. M., Silva,P. C., Czepielewski, M., Simoni, G., Arnhold, I. J. P., and Jorge, A. A. L. (2010). A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings. Eur. J. Endocrinol. 163, 349-355.
33. Russell, S. M., Tayebi, N., Nakajima, H., Riedy, M. C., Roberts, J. L., and Aman,M. J. (1995). Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science 270, 797-800.
34. Sakaguchi, S., Sakaguchi, N., Asano, M., Itoh, M., and Toda, M. (1995). Immunologic selftolerance maintained by activated T cells expressing IL-2 receptor alphachains (CD25). Breakdown of a single mechanism of selftolerance causes various autoimmune diseases. J. Immunol. 155, 1151-1164.
35. Sakaguchi, S., Yamaguchi, T., Nomura, T., and Ono, M. (2008). Regulatory T cells and immune tolerance. Cell 133, 775-787.
36. Scaglia, P. A., Martínez,A. S., Feigerlová, E., Bezrodnik, L., Gaillard, M. I., Di Giovanni, D., Ballerini, M. G., Jasper, H. G., Heinrich, J. J., Fang, P., Domené, H. M., Rosenfeld, R. G., and Hwa, V. (2012). A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease. J. Clin. Endocrinol. Metab. 97, E830-E839.
37. Sharfe, N., Dadi, H. K., Shahar, M., and Roifman, C. M. (1997). Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. Proc. Natl. Acad. Sci. U.S.A. 94, 3168-3171.
38. Soldaini, E., John, S., Moro, S., Bollenbacher, J., Schindler, U., and, Leonard, W. J. (2000). DNA binding site selection of dimeric and tetrameric Stat5 proteins reveals a large repertoire of divergent tetrameric Stat5a binding sites. Mol. Cell. Biol. 20, 389-401.
39. Strauss, L., Czystowska, M., Szajnik, M., Mandapathil, M., and Whiteside, T. L. (2009). Differential responses of human regulatory T cells (Treg) and effector T cells to rapamycin. PloS ONE 4, e5994. doi:10.1371/journal.pone.0005994
40. Tischner, D., Woess, C., Ottina, E., and Villunger, A. (2010). Bcl-2-regulated cell death signalling in the prevention of autoimmunity. Cell Death Dis. 1, e48.
41. Ulukaya, E., Acilan, C., and Yilmaz, Y. (2011). Apoptosis: why and how does it occur in biology? Cell Biochem. Funct. 29, 468-480.
42. Vidarsdottir, S., Walenkamp, M. J., Pereira, A. M., Karperien, M., van Doorn, J., van Duyvenvoorde, H. A., White, S., Breuning, M. H., Roelfsema, F., Kruithof, M. F., van Dissel, J.,Janssen,R.,Wit,J. M.,and Romijn, J. A. (2006). Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. J. Clin. Endocrinol. Metab. 91, 3482-3485.
43. Wei, L., Laurence, A., and O'Shea, J. J. (2008). New insights into the roles of Stat5a/b and Stat3 in T cell development and differentiation. Semin. Cell Dev. Biol. 19, 394-400.
44. Wildin, R. S., Ramsdell, F., Peake, J., Faravelli, F., Casanova, J. L., Buist, N., Levy-Lahad, M., Mazzella, E. M., Goulet, O., Perroni, L., Bricarelli, F. D., Byrne, G., McEuen, M., Proll, S., Appleby, M., and Brunkow, M. E. (2001). X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat. Genet. 27, 18-20.
45. Willerford, D. M., Chen, J., Ferry, J. A., Davidson, L., Ma, A., and Alt, F. W. (1995). Interleukin-2 receptor alpha chain regulates the size and content of the peripheral lymphoid compartment. Immunity 3, 521-530.
46. Xu, D., and Qu, C. K. (2008). Protein tyrosine phosphatases in the JAK/STAT pathway. Front. Biosci. 13:4925-4932.
47. Zeiser, R., Leveson-Gower, D. B., Zambricki, E. A., Kambham, N., Beilhack, A., Loh, J., Hou1, J.-Z., and Negrin, R. S. (2008). Differential impact of mammalian target of rapamycin inhibition on CD4+ CD25+ Foxp3+ regulatory T cells compared with conventional CD4+ T cells. Blood 111, 453-462.
48. Zhu, M. H., Berry, J. A., Russell, S. M., and Leonard, W. J. (1998). Delineation of the regions of interleukin-2 (IL-2) receptor beta chain important for association of Jak1 and Jak3. Jak1-independent functional recruitment of Jak3 to Il-2Rbeta. J. Biol. Chem. 273, 10719-10725.